Disease Name Symbol Acronym
C Syndrome CSY001 CSYN
C1 Inhibitor Deficiency C1N001
C1q Deficiency C1Q001 C1QD
C1q Nephropathy C1Q005
C3 Glomerulopathy C3G002 DDD
C3hex, Ability to Smell C3H001
C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia C9R002
Cafe-Au-Lait Spots, Multiple CFL005 NF6
Caffey Disease CFF003 CAFFD
Cakut CKT002 CAKUT
Calcific Tendinitis CLC004
Calcification of Joints and Arteries CLC017 CALJA
Calcifying Aponeurotic Fibroma CLC064
Calcifying Epithelial Odontogenic Tumor CLC010 CEOT
Calcinosis CLC006
Calciphylaxis CLC001
Calvarial Doughnut Lesions with Bone Fragility CLV014 CDL
Calvarial Hyperostosis CLV004
Campomelic Dysplasia CMP005 CMD1
Camptodactyly 1 CMP039 CAMPD1
Camptodactyly, Tall Stature, and Hearing Loss Syndrome CMP025 CATSHLS
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome CMP012 CACP
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome CMP067
Camptosynpolydactyly, Complex CMP081 CCSPD
Campylobacteriosis CMP002
Camurati-Engelmann Disease CMR001 CAEND
Canavan Disease CNV004 CAND
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma CNC020 CAPOK
Cancer, Familial, with in Vitro Radioresistance CNC019
Cancer-Associated Retinopathy CNC014
Cancerophobia CNC001
Candida Glabrata CND006
Candidiasis CND004
Candidiasis, Familial, 1 CND033 CANDF1
Candidiasis, Familial, 2 CND034 CANDF2
Candidiasis, Familial, 3 CND027 CANDF3
Candidiasis, Familial, 4 CND036 CANDF4
Candidiasis, Familial, 6 CND037 CANDF6
Candidiasis, Familial, 8 CND025 CANDF8
Candidiasis, Familial, 9 CND031 CANDF9
Cannabis Abuse CNN002
Cannabis Dependence CNN001
Cantu Syndrome CNT056 HTOCD
Cantú Syndrome and Related Disorders CNT094
Cap Myopathy CPM001
Cap Polyposis CPP003
Capgras Syndrome CPG001
Capillariasis CPL001
Capillary Disease CPL005
Capillary Hemangioma CPL006
Capillary Leak Syndrome CPL003
Capillary Lymphangioma CPL002
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth CPL012 CLAPO
Capillary Malformation-Arteriovenous Malformation 1 CPL014 CMAVM1
Capillary Malformation-Arteriovenous Malformation 2 CPL015 CMAVM2
Capillary Malformations, Congenital CPL013 CMC
Caplan's Syndrome CPL004
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to CRB186 CPS1D
Carbohydrate Metabolic Disorder CRB025
Carbonic Anhydrase Va Deficiency CRB155
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to CRB197 CA5AD
Carboxypeptidase N Deficiency CRB041 CPND
Carbuncle CRB016
Carcinoid Syndrome CRC006
Carcinoid Tumors, Intestinal CRC014 ICT
Carcinosarcoma CRC021 MMMT
Cardia Cancer CRD005
Cardiac Arrest CRD119
Cardiac Arrhythmia CRD223
Cardiac Arrhythmia, Ankyrin-B-Related CRD054 LQT4
Cardiac Conduction Defect CRD132 SCD
Cardiac Conduction Disease with or Without Dilated Cardiomyopathy CRD178 CCDD
Cardiac Rupture CRD016
Cardiac Sarcoidosis CRD003
Cardiac Tamponade CRD001
Cardiac Valvular Defect, Developmental CRD220 CVDD
Cardiac Valvular Dysplasia, X-Linked CRD017 CVD1
Cardiac, Facial, and Digital Anomalies with Developmental Delay CRD243 CAFDADD
Cardiac-Urogenital Syndrome CRD245 CUGS
Cardioencephalomyopathy CRD009
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1 CRD170 CEMCOX1
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 CRD158 CEMCOX2
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 CRD193 CEMCOX3
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 CRD192 CEMCOX4
Cardiofaciocutaneous Syndrome 1 CRD224 CFC1
Cardiofaciocutaneous Syndrome 2 CRD163 CFC2
Cardiofaciocutaneous Syndrome 3 CRD164 CFC3
Cardiofaciocutaneous Syndrome 4 CRD167 CFC4
Cardiogenic Shock CRD137
Cardiomyopathy, Dilated, 1a CRD093 CMD1A
Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction CRD237 CMD1AA
Cardiomyopathy, Dilated, 1b CRD233 CMD1B
Cardiomyopathy, Dilated, 1bb CRD108 CMD1BB
Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction CRD234 CMD1C
Cardiomyopathy, Dilated, 1cc CRD115 CMD1CC
Cardiomyopathy, Dilated, 1d CRD097 CMD1D
Cardiomyopathy, Dilated, 1dd CRD091 CMD1DD
Cardiomyopathy, Dilated, 1e CRD099 CMD1E
Cardiomyopathy, Dilated, 1ee CRD096 CMD1EE
Cardiomyopathy, Dilated, 1ff CRD064 CMD1FF
Cardiomyopathy, Dilated, 1g CRD080 CMD1G
Cardiomyopathy, Dilated, 1gg CRD082 CMD1GG
Cardiomyopathy, Dilated, 1h CRD069 CMD1H
Cardiomyopathy, Dilated, 1hh CRD159 CMD1HH
Cardiomyopathy, Dilated, 1i CRD111 CMD1I
Cardiomyopathy, Dilated, 1ii CRD162 CMD1II
Cardiomyopathy, Dilated, 1j CRD102 CMD1J
Cardiomyopathy, Dilated, 1jj CRD149 CMD1JJ
Cardiomyopathy, Dilated, 1k CRD070 CMD1K
Cardiomyopathy, Dilated, 1kk CRD155 CMD1KK
Cardiomyopathy, Dilated, 1l CRD090 CMD1L
Cardiomyopathy, Dilated, 1m CRD114 CMD1M
Cardiomyopathy, Dilated, 1nn CRD173 CMD1NN
Cardiomyopathy, Dilated, 1o CRD105 CMD1O
Cardiomyopathy, Dilated, 1p CRD104 CMD1P
Cardiomyopathy, Dilated, 1q CRD071 CMD1Q
Cardiomyopathy, Dilated, 1r CRD107 CMD1R
Cardiomyopathy, Dilated, 1u CRD112 CMD1U
Cardiomyopathy, Dilated, 1v CRD113 CMD1V
Cardiomyopathy, Dilated, 1w CRD092 CMD1W
Cardiomyopathy, Dilated, 1x CRD101 CMD1X
Cardiomyopathy, Dilated, 1z CRD060 CMD1Z
Cardiomyopathy, Dilated, 2a CRD063 CMD2A
Cardiomyopathy, Dilated, 2b CRD153 CMD2B
Cardiomyopathy, Dilated, 2c CRD244 CMD2C
Cardiomyopathy, Dilated, 3b CRD187 CMD3B
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism CRD229 CMDHH
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma CRD180 DCWHK
Cardiomyopathy, Dilated, with Woolly Hair, Keratoderma, and Tooth Agenesis CRD240 DCWHKTA
Cardiomyopathy, Familial Hypertrophic 27 CRD242 CMH27
Cardiomyopathy, Familial Hypertrophic, 1 CRD086 CMH1
Cardiomyopathy, Familial Hypertrophic, 10 CRD087 CMH10
Cardiomyopathy, Familial Hypertrophic, 11 CRD056 CMH11
Cardiomyopathy, Familial Hypertrophic, 12 CRD081 CMH12
Cardiomyopathy, Familial Hypertrophic, 13 CRD061 CMH13
Cardiomyopathy, Familial Hypertrophic, 14 CRD089 CMH14
Cardiomyopathy, Familial Hypertrophic, 15 CRD083 CMH15
Cardiomyopathy, Familial Hypertrophic, 16 CRD148 CMH16
Cardiomyopathy, Familial Hypertrophic, 17 CRD238 CMH17
Cardiomyopathy, Familial Hypertrophic, 18 CRD150 CMH18
Cardiomyopathy, Familial Hypertrophic, 2 CRD065 CMH2
Cardiomyopathy, Familial Hypertrophic, 20 CRD147 CMH20
Cardiomyopathy, Familial Hypertrophic, 21 CRD152 CMH21
Cardiomyopathy, Familial Hypertrophic, 25 CRD236 CMH25
Cardiomyopathy, Familial Hypertrophic, 26 CRD222 CMH26
Cardiomyopathy, Familial Hypertrophic, 3 CRD058 CMH3
Cardiomyopathy, Familial Hypertrophic, 4 CRD085 CMH4
Cardiomyopathy, Familial Hypertrophic, 6 CRD232 CMH6
Cardiomyopathy, Familial Hypertrophic, 7 CRD062 CMH7
Cardiomyopathy, Familial Hypertrophic, 8 CRD088 CMH8
Cardiomyopathy, Familial Hypertrophic, 9 CRD079 CMH9
Cardiomyopathy, Familial Restrictive, 1 CRD176 RCM1
Cardiomyopathy, Familial Restrictive, 2 CRD057 RCM2
Cardiomyopathy, Familial Restrictive, 3 CRD098 RCM3
Cardiomyopathy, Infantile Histiocytoid CRD231 CMIH
Cardiomyopathy, Infantile Hypertrophic CRD219 CMHI
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods CRD235
Cardiospondylocarpofacial Syndrome CRD221 CSCF
Cardiovascular Organ Benign Neoplasm CRD007
Cardiovascular Syphilis CRD006
Carey-Fineman-Ziter Syndrome CRY032 CFZS
Carney Complex Variant CRN038 CACOV
Carney Complex, Type 1 CRN243 CNC1
Carney Complex, Type 2 CRN298 CNC2
Carney Triad CRN055
Carnitine Deficiency, Systemic Primary CRN239 CDSP
Carnitine Palmitoyltransferase I Deficiency CRN295 CPT1AD
Carnitine Palmitoyltransferase Ii Deficiency, Infantile CRN296 CPT2DI
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal CRN302 CPT2DLN
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced CRN294 CPT2D
Carnitine-Acylcarnitine Translocase Deficiency CRN041 CACTD
Carnosinemia CRN042
Caroli Disease CRL004
Caroli Disease, Isolated CRL006
Caronte CRN167 CAR
Carotenemia CRT011
Carotid Artery Disease CRT016
Carotid Artery Dissection CRT008
Carotid Artery Occlusion CRT015
Carotid Artery Thrombosis CRT004
Carotid Body Cancer CRT001
Carotid Intimal Medial Thickness 1 CRT043 CIMT1
Carotid Intimal Medial Thickness 2 CRT085 CIMT2
Carotid Stenosis CRT013
Carpal Tunnel Syndrome CRP001 CTS1
Carpenter Syndrome 1 CRP023 CRPT1
Carpenter Syndrome 2 CRP022 CRPT2
Carrion's Disease CRR001
Cartilage Disease CRT017
Cartilage-Hair Hypoplasia CRT002 CHH
Cascade Stomach CSC001
Cask-Related Disorders CSK001
Caspase 8 Deficiency CSP005 CASP8D
Castleman Disease CST005
Cat Eye Syndrome CTY001 CES
Catamenial Pneumothorax CTM001
Cataract CTR002
Cataract 1, Multiple Types CTR098 CTRCT1
Cataract 10, Multiple Types CTR124 CTRCT10
Cataract 11, Multiple Types CTR113 CTRCT11
Cataract 12, Multiple Types CTR105 CTRCT12
Cataract 13 with Adult I Phenotype CTR107 CTRCT13
Cataract 14, Multiple Types CTR118 CTRCT14
Cataract 15, Multiple Types CTR116 CTRCT15
Cataract 16, Multiple Types CTR115 CTRCT16
Cataract 17, Multiple Types CTR131 CTRCT17
Cataract 18 CTR181 CTRCT18
Cataract 19, Multiple Types CTR165 CTRCT19
Cataract 2, Multiple Types CTR102 CTRCT2
Cataract 20, Multiple Types CTR106 CTRCT20
Cataract 21, Multiple Types CTR141 CTRCT21
Cataract 22, Multiple Types CTR180 CTRCT22
Cataract 23, Multiple Types CTR182 CTRCT23
Cataract 24 CTR175 CTRCT24
Cataract 25 CTR121 CTRCT25
Cataract 26, Multiple Types CTR110 CTRCT26
Cataract 27 CTR178 CTRCT27
Cataract 28 CTR157 CTRCT28
Cataract 29 CTR169 CTRCT29
Cataract 3, Multiple Types CTR132 CTRCT3
Cataract 30 CTR185
Cataract 30, Multiple Types CTR170 CTRCT30
Cataract 31, Multiple Types CTR129 CTRCT31
Cataract 32, Multiple Types CTR119 CTRCT32
Cataract 33 CTR128
Cataract 33, Multiple Types CTR166 CTRCT33
Cataract 34, Multiple Types CTR097 CTRCT34
Cataract 35 CTR159 CTRCT35
Cataract 36 CTR111 CTRCT36
Cataract 37 CTR158 CTRCT37
Cataract 38 CTR183 CTRCT38
Cataract 39, Multiple Types CTR184 CTRCT39
Cataract 4, Multiple Types CTR103 CTRCT4
Cataract 40 CTR174 CTRCT40
Cataract 41 CTR136 CTRCT41
Cataract 42 CTR139 CTRCT42
Cataract 43 CTR144 CTRCT43
Cataract 44 CTR145 CTRCT44
Cataract 45 CTR160 CTRCT45
Cataract 46, Juvenile-Onset CTR163 CTRCT46
Cataract 47 CTR162 CTRCT47
Cataract 48 CTR187 CTRCT48
Cataract 5, Multiple Types CTR122 CTRCT5
Cataract 6, Multiple Types CTR096 CTRCT6
Cataract 7 CTR125 CTRCT7
Cataract 8, Multiple Types CTR095 CTRCT8
Cataract 9, Multiple Types CTR130 CTRCT9
Cataract Hutterite Type CTR011
Cataract Microcornea Syndrome CTR014
Cataract-Glaucoma CTR027
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia CTR140 CAGSSS
Catastrophic Antiphospholipid Syndrome CTS005 CAPS
Catecholamine-Producing Tumor CTC004
Catecholaminergic Polymorphic Ventricular Tachycardia CTC001 CPVT
Catel-Manzke Syndrome CTL005 CATMANS
Cat-Scratch Disease CTS002
Catsper-Related Male Infertility CTS004
Cauda Equina Neoplasm CDQ003
Cauda Equina Syndrome CDQ001
Caudal Duplication Anomaly CDL005 CADUA
Causalgia CSL001
Caveolinopathies CVL001
Cavernous Hemangioma CVR006
Cavernous Malformation CVR010
Cavernous Sinus Meningioma CVR001
Cavernous Sinus Thrombosis CVR002
Cavitary Optic Disc Anomalies CVT001 CODA
Cayler Cardiofacial Syndrome CYL001 ACF
Cd3zeta Deficiency CD3001
Cd4/cd8 T-Cell Ratio CD4008
Cd40 Ligand Deficiency CD4003 XHIM
Cd45 Deficiency CD4001
Cd8 Deficiency, Familial CD8002 CD8 DEFICIENCY
Cdags Syndrome CDG001
Cdc73-Related Disorders CDC001
Cdk13-Related Disorder CDK007
Cebpa-Associated Familial Acute Myeloid Leukemia CBP001
Cecal Disease CCL002
Cecum Adenocarcinoma CCM001
Cecum Carcinoma CCM004
Celiac Disease 1 CLC063 CELIAC1
Celiac Disease 10 CLC038 CELIAC10
Celiac Disease 11 CLC043 CELIAC11
Celiac Disease 12 CLC044 CELIAC12
Celiac Disease 13 CLC039 CELIAC13
Celiac Disease 2 CLC045 CELIAC2
Celiac Disease 3 CLC048 CELIAC3
Celiac Disease 4 CLC037 CELIAC4
Celiac Disease 5 CLC046 CELIAC5
Celiac Disease 6 CLC040 CELIAC6
Celiac Disease 7 CLC041 CELIAC7
Celiac Disease 8 CLC047 CELIAC8
Celiac Disease 9 CLC042 CELIAC9
Cell Type Benign Neoplasm CLL012
Cell Type Cancer CLL013
Cellular Congenital Mesoblastic Nephroma CLL007
Cellular Ependymoma CLL010
Cellular Leiomyoma CLL005
Cellular Myxoid Liposarcoma CLL004
Cellular Neurofibroma CLL006
Cellular Schwannoma CLL001
Cellulitis CLL003
Cenani-Lenz Syndactyly Syndrome CNN011 CLSS
Central Centrifugal Cicatricial Alopecia CNT057 CCCA
Central Congenital Hypothyroidism CNT101
Central Core Disease of Muscle CNT105 CCD
Central Core Myopathy CNT009
Central Corneal Ulcer CNT026
Central Epithelioid Sarcoma CNT031
Central Hypoventilation Syndrome, Congenital CNT097 CCHS
Central Nervous System Benign Neoplasm CNT109
Central Nervous System Cancer CNT033
Central Nervous System Disease CNT035 CNS
Central Nervous System Germ Cell Tumor CNT036
Central Nervous System Germinoma CNT037
Central Nervous System Hematologic Cancer CNT010
Central Nervous System Immature Teratoma CNT039
Central Nervous System Leukemia CNT018
Central Nervous System Lipoma CNT024
Central Nervous System Lymphoma CNT005
Central Nervous System Malformation CNT114
Central Nervous System Melanocytic Neoplasm CNT041
Central Nervous System Mesenchymal Non-Meningothelial Tumor CNT042
Central Nervous System Origin Vertigo CNT017
Central Nervous System Primitive Neuroectodermal Neoplasm CNT044 CPNET
Central Nervous System Primitive Neuroectodermal Tumor CNT112
Central Nervous System Sarcoma CNT045
Central Nervous System Tuberculosis CNT007
Central Nervous System Vasculitis CNT046
Central Neurocytoma CNT019
Central Pain Syndrome CNT068
Central Polydactyly CNT108
Central Pontine Myelinolysis CNT025 CPM
Central Precocious Puberty CNT075 CPP
Central Retinal Artery Occlusion CNT028
Central Retinal Vein Occlusion CNT016 CRVO
Central Serous Chorioretinopathy CNT060 CSCR
Central Sleep Apnea CNT015
Centralopathic Epilepsy CNT106 ECT
Centripetalis Recessive Dystrophic Epidermolysis Bullosa CNT086
Centronuclear Myopathy CNT004 CNM
Cephalosporin Allergy CPH004
Cercarial Dermatitis CRC001
Cerebellar Agenesis CRB053
Cerebellar Angioblastoma CRB015
Cerebellar Astrocytoma CRB026
Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome CRB198
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss CRB058 CAPOS
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss CRB189 CAPOS
Cerebellar Ataxia, Cayman Type CRB081 ATCAY
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant CRB142 ADCADN
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome CRB158 CAMRQ
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 CRB185 CAMRQ1
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 CRB136 CAMRQ2
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 CRB195 CAMRQ3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 CRB141 CAMRQ4
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome CRB196 CANVAS
Cerebellar Ataxia, Nonprogressive, with Mental Retardation CRB139 CANPMR
Cerebellar Atrophy with Seizures and Variable Developmental Delay CRB205 CASVDD
Cerebellar Atrophy, Developmental Delay, and Seizures CRB169 CADEDS
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation CRB165 CAVIPMR
Cerebellar Degeneration CRB059
Cerebellar Disease CRB027
Cerebellar Hypoplasia CRB045
Cerebellar Hypoplasia with Endosteal Sclerosis CRB062
Cerebellar Liponeurocytoma CRB022
Cerebellar Malformation CRB209
Cerebellar Medulloblastoma CRB028
Cerebellar, Ocular, Craniofacial, and Genital Syndrome CRB204 COFG
Cerebellofaciodental Syndrome CRB147 CFDS
Cerebellopontine Angle Meningioma CRB023
Cerebellopontine Angle Tumor CRB029
Cerebellum Cancer CRB030
Cerebral Amyloid Angiopathy, App-Related CRB193 CAA-APP
Cerebral Amyloid Angiopathy, Cst3-Related CRB172 AMYL6
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 CRB176 CAA-ITM2B1
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 CRB174 CAA-ITM2B2
Cerebral Aneurysms CRB086
Cerebral Angioma CRB014
Cerebral Arterial Disease CRB031
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 CRB175 CADASIL1
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 CRB170 CADASIL2
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy CRB188 CARASIL
Cerebral Arteriosclerosis CRB087
Cerebral Arteritis CRB005
Cerebral Artery Occlusion CRB004
Cerebral Atherosclerosis CRB008
Cerebral Atrophy CRB088
Cerebral Cavernous Malformation, Familial CRB051
Cerebral Cavernous Malformations CRB048 CCM
Cerebral Cavernous Malformations 2 CRB191 CCM2
Cerebral Cavernous Malformations 3 CRB094 CCM3
Cerebral Convexity Meningioma CRB032
Cerebral Cortical Dysplasia CRB211
Cerebral Creatine Deficiency Syndrome CRB137
Cerebral Creatine Deficiency Syndrome 1 CRB151 CCDS1
Cerebral Creatine Deficiency Syndrome 2 CRB150 CCDS2
Cerebral Creatine Deficiency Syndrome 3 CRB148 CCDS3
Cerebral Degeneration CRB033
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome CRB069 CEDNIK
Cerebral Falx Meningioma CRB017
Cerebral Folate Deficiency CRB070
Cerebral Hemisphere Lipoma CRB034
Cerebral Hypoxia CRB090
Cerebral Lipidosis CRB018
Cerebral Lymphoma CRB001
Cerebral Malformation CRB208
Cerebral Meningioma CRB036
Cerebral Neuroblastoma CRB024
Cerebral Palsy CRB037
Cerebral Palsy, Ataxic, Autosomal Recessive CRB108 ACP
Cerebral Palsy, Spastic Quadriplegic, 1 CRB125 CPSQ1
Cerebral Palsy, Spastic Quadriplegic, 2 CRB140 CPSQ2
Cerebral Palsy, Spastic Quadriplegic, 3 CRB095 CPSQ3
Cerebral Primitive Neuroectodermal Tumor CRB002
Cerebral Sinovenous Thrombosis CRB132 CSVT
Cerebral Ventricle Cancer CRB038
Cerebral Visual Impairment CRB159
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked CRB144
Cerebritis CRB009
Cerebrocostomandibular Syndrome CRB154 CCMS
Cerebrocostomandibular-Like Syndrome CRB078
Cerebro-Oculo-Facio-Skeletal Syndrome CRB091
Cerebrooculofacioskeletal Syndrome 1 CRB101 COFS1
Cerebrooculofacioskeletal Syndrome 2 CRB098 COFS2
Cerebrooculofacioskeletal Syndrome 3 CRB099 COFS3
Cerebrooculofacioskeletal Syndrome 4 CRB100 COFS4
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 CRB194 CRMCC1
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 CRB168 CRMCC2
Cerebrospinal Fluid Leak CRB079
Cerebrotendinous Xanthomatosis CRB011 CTX
Cerebrovascular Benign Neoplasm CRB202
Cerebrovascular Disease CRB039 CVA
Cerebrum Cancer CRB040
Ceroid Lipofuscinosis, Neuronal, 1 CRD177 CLN1
Ceroid Lipofuscinosis, Neuronal, 10 CRD182 CLN10
Ceroid Lipofuscinosis, Neuronal, 11 CRD166 CLN11
Ceroid Lipofuscinosis, Neuronal, 13 CRD239 CLN13
Ceroid Lipofuscinosis, Neuronal, 2 CRD183 CLN2
Ceroid Lipofuscinosis, Neuronal, 3 CRD186 CLN3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive CRD226 CLN4A
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant CRD225 CLN4B
Ceroid Lipofuscinosis, Neuronal, 5 CRD184 CLN5
Ceroid Lipofuscinosis, Neuronal, 6 CRD185 CLN6
Ceroid Lipofuscinosis, Neuronal, 7 CRD179 CLN7
Ceroid Lipofuscinosis, Neuronal, 8 CRD181 CLN8
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant CRD075 CLN8NE
Ceroid Lipofuscinosis, Neuronal, 9 CRD216 CLN9
Ceroid Storage Disease CRD043
Cerulean Cataract CRL001 CCA1
Ceruminoma CRM002
Ceruminous Adenocarcinoma CRM013
Cervical Adenitis CRV030
Cervical Adenocarcinoma CRV031
Cervical Adenoid Basal Carcinoma CRV024
Cervical Adenoid Cystic Carcinoma CRV013
Cervical Adenoma Malignum CRV014
Cervical Adenomyoma CRV032
Cervical Adenosarcoma CRV028
Cervical Adenosquamous Carcinoma CRV033
Cervical Basaloid Squamous Cell Carcinoma CRV008
Cervical Cancer CRV035 CERCA
Cervical Carcinosarcoma CRV036
Cervical Clear Cell Adenocarcinoma CRV026
Cervical Dystonia CRV043
Cervical Incompetence CRV025
Cervical Intraepithelial Neoplasia CRV045 CIN
Cervical Keratinizing Squamous Cell Carcinoma CRV029
Cervical Large Cell Neuroendocrine Carcinoma CRV015
Cervical Mucinous Adenocarcinoma CRV037
Cervical Neuroblastoma CRV067
Cervical Polyp CRV068
Cervical Spina Bifida Aperta CRV063
Cervical Spina Bifida Cystica CRV062
Cervical Squamous Cell Carcinoma CRV038
Cervical Verrucous Carcinoma CRV012
Cervicitis CRV039
Cervicothoracic Spina Bifida Aperta CRV064
Cervicothoracic Spina Bifida Cystica CRV061
Cervix Carcinoma CRV040
Cervix Disease CRV069
Cervix Endometriosis CRV006
Cervix Small Cell Carcinoma CRV022
Cervix Uteri Carcinoma in Situ CRV002
Cfhr5 Deficiency CFH006 CFHR5D
Chagas Disease CHG001
Chanarin-Dorfman Syndrome CHN055 CDS
Chancroid CHN002
Chand Syndrome CHN019 CHANDS
Char Syndrome CHR101 CHAR
Charcot-Marie-Tooth Disease CHR071 CMT
Charcot-Marie-Tooth Disease and Deafness CHR629 CMT1E
Charcot-Marie-Tooth Disease Intermediate Type CHR025
Charcot-Marie-Tooth Disease Type 2a CHR135
Charcot-Marie-Tooth Disease Type 2a2 CHR622
Charcot-Marie-Tooth Disease Type 2c CHR139
Charcot-Marie-Tooth Disease Type 2f CHR142
Charcot-Marie-Tooth Disease Type 2g CHR143
Charcot-Marie-Tooth Disease Type 2k CHR147
Charcot-Marie-Tooth Disease Type 2l CHR549
Charcot-Marie-Tooth Disease Type 2n CHR550
Charcot-Marie-Tooth Disease Type 2q CHR553
Charcot-Marie-Tooth Disease Type X CHR026
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a CHR660 CMT2A2A
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b CHR674 CMT2A2B
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 CHR626 CMT2A1
Charcot-Marie-Tooth Disease, Axonal, Type 2b CHR646 CMT2B
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 CHR650 CMT2B1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 CHR651 CMT2B2
Charcot-Marie-Tooth Disease, Axonal, Type 2cc CHR618 CMT2CC
Charcot-Marie-Tooth Disease, Axonal, Type 2d CHR649 CMT2D
Charcot-Marie-Tooth Disease, Axonal, Type 2dd CHR678 CMT2DD
Charcot-Marie-Tooth Disease, Axonal, Type 2e CHR654 CMT2E
Charcot-Marie-Tooth Disease, Axonal, Type 2ee CHR683 CMT2EE
Charcot-Marie-Tooth Disease, Axonal, Type 2f CHR352 CMT2F
Charcot-Marie-Tooth Disease, Axonal, Type 2h CHR545 CMT2H
Charcot-Marie-Tooth Disease, Axonal, Type 2i CHR652 CMT2I
Charcot-Marie-Tooth Disease, Axonal, Type 2j CHR657 CMT2J
Charcot-Marie-Tooth Disease, Axonal, Type 2k CHR350 CMT2K
Charcot-Marie-Tooth Disease, Axonal, Type 2l CHR353 CMT2L
Charcot-Marie-Tooth Disease, Axonal, Type 2n CHR351 CMT2N
Charcot-Marie-Tooth Disease, Axonal, Type 2o CHR668 CMT2O
Charcot-Marie-Tooth Disease, Axonal, Type 2p CHR608 CMT2P
Charcot-Marie-Tooth Disease, Axonal, Type 2q CHR489 CMT2Q
Charcot-Marie-Tooth Disease, Axonal, Type 2r CHR671 CMT2R
Charcot-Marie-Tooth Disease, Axonal, Type 2t CHR542 CMT2T
Charcot-Marie-Tooth Disease, Axonal, Type 2u CHR547 CMT2U
Charcot-Marie-Tooth Disease, Axonal, Type 2v CHR548 CMT2V
Charcot-Marie-Tooth Disease, Axonal, Type 2w CHR544 CMT2W
Charcot-Marie-Tooth Disease, Axonal, Type 2x CHR613 CMT2X
Charcot-Marie-Tooth Disease, Axonal, Type 2z CHR617 CMT2Z
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive CHR655 CMT2RV
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a CHR627 CMT1A
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b CHR625 CMT1B
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c CHR647 CMT1C
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d CHR653 CMT1D
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f CHR656 CMT1F
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g CHR681 CMT1G
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f CHR670 CMT4F
Charcot-Marie-Tooth Disease, Dominant Intermediate a CHR491 CMTDIA
Charcot-Marie-Tooth Disease, Dominant Intermediate B CHR422 CMTDIB
Charcot-Marie-Tooth Disease, Dominant Intermediate C CHR371 CMTDIC
Charcot-Marie-Tooth Disease, Dominant Intermediate D CHR481 CMTDID
Charcot-Marie-Tooth Disease, Dominant Intermediate E CHR522 CMTDIE
Charcot-Marie-Tooth Disease, Dominant Intermediate F CHR484 CMTDIF
Charcot-Marie-Tooth Disease, Dominant Intermediate G CHR676 CMTDIG
Charcot-Marie-Tooth Disease, Recessive Intermediate a CHR658 CMTRIA
Charcot-Marie-Tooth Disease, Recessive Intermediate B CHR666 CMTRIB
Charcot-Marie-Tooth Disease, Recessive Intermediate C CHR480 CMTRIC
Charcot-Marie-Tooth Disease, Recessive Intermediate D CHR514 CMTRID
Charcot-Marie-Tooth Disease, Type 4a CHR517 CMT4A
Charcot-Marie-Tooth Disease, Type 4b1 CHR521 CMT4B1
Charcot-Marie-Tooth Disease, Type 4b2 CHR519 CMT4B2
Charcot-Marie-Tooth Disease, Type 4b3 CHR504 CMT4B3
Charcot-Marie-Tooth Disease, Type 4c CHR516 CMT4C
Charcot-Marie-Tooth Disease, Type 4d CHR376 CMT4D
Charcot-Marie-Tooth Disease, Type 4h CHR421 CMT4H
Charcot-Marie-Tooth Disease, Type 4j CHR420 CMT4J
Charcot-Marie-Tooth Disease, Type 4k CHR609 CMT4K
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 CHR640 CMTX1
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 CHR505 CMTX6
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 CHR641 CMTX2
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 CHR642 CMTX3
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 CHR408 CMTX5
Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy CHR687
Charcot-Marie-Tooth Hereditary Neuropathy CHR453 DHMN
Charcot-Marie-Tooth Neuropathy Type 2a CHR115
Charcot-Marie-Tooth Neuropathy Type 4j CHR315
Charcot-Marie-Tooth Neuropathy X Type 1 CHR120 CMTX1
Charcot-Marie-Tooth Neuropathy X Type 5 CHR121 CMTX5
Charge Syndrome CHR103 CHARGES
Charles Bonnet Syndrome CHR158 CBS
Chchd10-Related Disorders CHC002
Chd2 Myoclonic Encephalopathy CHD007 EEOC
Chd2-Related Neurodevelopmental Disorders CHD006
Chediak-Higashi Syndrome CHD001 CHS
Cheilitis CHL056
Chemical Colitis CHM005
Cherry Allergy CHR570
Cherubism CHR003 CRBM
Chest Wall Lymphoma CHS005
Chester Porphyria CHS007 PORC
Chiari Malformation CHR342
Chiari Malformation Type I CHR320 CM1
Chiari Malformation Type Ii CHR579 CM2
Chiasmal Syndrome CHS002
Chickenpox CHC001
Chief Cell Adenoma CHF001
Chikungunya CHK001 CK
Chilblain Lupus 1 CHL140 CHBL1
Chilblain Lupus 2 CHL114 CHBL2
Childhood Absence Epilepsy CHL002
Childhood Acute Lymphocytic Leukemia CHL152
Childhood Apraxia of Speech CHL109 CAS
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter CHL150
Childhood Brain Stem Glioma CHL057
Childhood Central Nervous System Primitive Neuroectodermal Neoplasm CHL022
Childhood Disintegrative Disease CHL012
Childhood Electroclinical Syndrome CHL058
Childhood Endodermal Sinus Tumor CHL049
Childhood Kidney Angiomyolipoma CHL044
Childhood Kidney Cell Carcinoma CHL010
Childhood Leukemia CHL061
Childhood Malignant Schwannoma CHL033
Childhood Medulloblastoma CHL018
Childhood Non-Hodgkin Lymphoma CHL151
Childhood Oligodendroglioma CHL006
Childhood Ovarian Cancer CHL124
Childhood Pilocytic Astrocytoma CHL062
Childhood Type Dermatomyositis CHL028 JDM
Childhood-Onset Nemaline Myopathy CHL107
Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome CHL130
Childhood-Onset Schizophrenia CHL078
Chitayat Syndrome CHT006 CHYTS
Chitotriosidase Deficiency CHT005 CHITD
Chlamydia CHL123
Chlamydia Pneumonia CHL147
Chloramine T Respiratory Allergy CHL146
Chlorhexidine Allergy CHL145
Choanal Atresia and Lymphedema CHN040 CATLPH
Choanal Atresia, Posterior CHN065 PCA
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome CHN069
Cholangiocarcinoma CHL065 CC
Cholangiolocellular Carcinoma CHL040
Cholangitis CHL066
Cholangitis, Primary Sclerosing CHL119 PSC
Cholecystitis CHL067
Cholecystolithiasis CHL013
Choledocholithiasis CHL039
Cholelithiasis CHL004
Cholera CHL014
Cholestasis CHL068
Cholestasis, Benign Recurrent Intrahepatic, 1 CHL134 BRIC1
Cholestasis, Benign Recurrent Intrahepatic, 2 CHL118 BRIC2
Cholestasis, Intrahepatic, of Pregnancy 3 CHL142 ICP3
Cholestasis, Intrahepatic, of Pregnancy, 1 CHL116 ICP1
Cholestasis, Progressive Familial Intrahepatic, 1 CHL132 PFIC1
Cholestasis, Progressive Familial Intrahepatic, 2 CHL136 PFIC2
Cholestasis, Progressive Familial Intrahepatic, 3 CHL137 PFIC3
Cholestasis, Progressive Familial Intrahepatic, 4 CHL143 PFIC4
Cholestasis, Progressive Familial Intrahepatic, 5 CHL091 PFIC5
Cholestasis-Lymphedema Syndrome CHL073 LCS
Cholesteatoma of Middle Ear CHL122
Cholesterol Embolism CHL070
Cholesterol Ester Storage Disease CHL050
Cholesterol Level Quantitative Trait Locus 1 CHL139 CLF
Cholesterol Level Quantitative Trait Locus 2 CHL141
Choline Deficiency Disease CHL045
Cholinergic Urticaria CHL035
Chondroblastic Osteosarcoma CHN003
Chondroblastoma CHN004
Chondrocalcinosis CHN059
Chondrocalcinosis 1 CHN021 CCAL1
Chondrocalcinosis 2 CHN022 CCAL2
Chondrodysplasia Punctata 1, X-Linked Recessive CHN028 CDPX1
Chondrodysplasia Punctata 2, X-Linked Dominant CHN074 CDPX2
Chondrodysplasia Punctata Syndrome CHN044 CDP
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal CHN075 BCDP
Chondrodysplasia Punctata, Tibia-Metacarpal Type CHN067
Chondrodysplasia with Joint Dislocations, Gpapp Type CHN045 CDP-GPAPP
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia CHN050 CDP-PBHM
Chondrodysplasia, Blomstrand Type CHN054 BOCD
Chondrodysplasia, Grebe Type CHN057 AMDG
Chondrodysplasia-Pseudohermaphroditism Syndrome CHN064
Chondroid Chordoma CHN009
Chondroid Lipoma CHN001
Chondroma CHN010
Chondromalacia CHN011
Chondromyxoid Fibroma CHN053
Chondrosarcoma CHN012 CHDSA
Chondrosarcoma, Extraskeletal Myxoid CHN056 EMC
Chops Syndrome CHP002 CHOPS
Chordoid Glioma CHR033
Chordoid Meningioma CHR055
Chordoma CHR072 CHDM
Chorea Gravidarum CHR051
Chorea, Benign Hereditary CHR630 BHC
Chorea, Childhood-Onset, with Psychomotor Retardation CHR607 COCPMR
Choreatic Disease CHR073
Choreoacanthocytosis CHR105 CHAC
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction CHR661 CAHTP
Chorioamnionitis CHR005
Chorioangioma CHR010
Choriocarcinoma CHR074
Choriocarcinoma of Ovary CHR075
Choriocarcinoma of the Testis CHR076
Chorioretinal Atrophy, Progressive Bifocal CHR167 CRAPB
Chorioretinal Scar CHR077
Chorioretinitis CHR078
Choroid Cancer CHR410
Choroid Disease CHR079
Choroid Plexus Cancer CHR573
Choroidal Dystrophy, Central Areolar 2 CHR449 CACD2
Choroidal Dystrophy, Central Areolar, 1 CHR637 CACD1
Choroidal Dystrophy, Central Areolar, 3 CHR665 CACD3
Choroideremia CHR081 CHM
Choroideremia, Deafness, and Mental Retardation CHR506 DEL
Choroiditis CHR008
Christianson Syndrome CHR174
Chromium Allergic Contact Dermatitis CHR679
Chromoblastomycosis CHR031
Chromophobe Adenoma CHR034
Chromophobe Renal Cell Carcinoma CHR177 CRCC
Chromosomal Deletion Syndrome CHR565
Chromosomal Disease CHR084
Chromosomal Duplication Syndrome CHR569
Chromosomal Triplication CHR178
Chromosome 10q Deletion CHR183
Chromosome 10q23 Deletion Syndrome CHR490
Chromosome 10q26 Deletion Syndrome CHR377
Chromosome 11p13 Deletion Syndrome, Distal CHR611
Chromosome 13q14 Deletion Syndrome CHR492
Chromosome 14q11-Q22 Deletion Syndrome CHR390
Chromosome 14q32 Duplication Syndrome, 700-Kb CHR673
Chromosome 15q11.2 Deletion Syndrome CHR523
Chromosome 15q11-Q13 Duplication Syndrome CHR590
Chromosome 15q13.3 Deletion Syndrome CHR662
Chromosome 15q14 Deletion Syndrome CHR612
Chromosome 15q24 Deletion Syndrome CHR391
Chromosome 15q25 Deletion Syndrome CHR494
Chromosome 15q26-Qter Deletion Syndrome CHR379
Chromosome 16p11.2 Deletion Syndrome, 220-Kb CHR620
Chromosome 16p11.2 Deletion Syndrome, 593-Kb CHR621
Chromosome 16p11.2 Duplication Syndrome CHR498
Chromosome 16p12.1 Deletion Syndrome, 520-Kb CHR634
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb CHR586
Chromosome 16p13.2 Deletion Syndrome CHR614
Chromosome 16p13.3 Deletion Syndrome, Proximal CHR593 RTS
Chromosome 16p13.3 Duplication Syndrome CHR524
Chromosome 16q22 Deletion Syndrome CHR499
Chromosome 17p Deletion CHR208
Chromosome 17p13.1 Deletion Syndrome CHR457
Chromosome 17p13.3, Centromeric, Duplication Syndrome CHR589
Chromosome 17p13.3, Telomeric, Duplication Syndrome CHR663 SHFLD3
Chromosome 17q11.2 Deletion Syndrome CHR554
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb CHR581
Chromosome 17q12 Deletion Syndrome CHR501
Chromosome 17q12 Duplication Syndrome CHR502
Chromosome 17q21.31 Duplication Syndrome CHR362
Chromosome 17q23.1-Q23.2 Deletion Syndrome CHR381
Chromosome 17q23.1-Q23.2 Duplication Syndrome CHR363
Chromosome 18 Pericentric Inversion CHR364
Chromosome 18p Deletion Syndrome CHR211 18P-
Chromosome 18q Deletion Syndrome CHR382
Chromosome 19p13.13 Deletion Syndrome CHR393
Chromosome 19q13.11 Deletion Syndrome CHR219
Chromosome 19q13.11 Deletion Syndrome, Distal CHR616
Chromosome 19q13.11 Deletion Syndrome, Proximal CHR615
Chromosome 1p32-P31 Deletion Syndrome CHR383
Chromosome 1p35 Deletion Syndrome CHR677
Chromosome 1p36 Deletion Syndrome CHR222
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb CHR583
Chromosome 1q21.1 Duplication Syndrome CHR225
Chromosome 1q41-Q42 Deletion Syndrome CHR226
Chromosome 22q11.2 Deletion Syndrome, Distal CHR346
Chromosome 22q11.2 Duplication Syndrome CHR659
Chromosome 22q13 Duplication Syndrome CHR503
Chromosome 2p12-P11.2 Deletion Syndrome CHR384
Chromosome 2p16.1-P15 Deletion Syndrome CHR396
Chromosome 2p16.3 Deletion Syndrome CHR669 SCZD17
Chromosome 2q24 Microdeletion Syndrome CHR241
Chromosome 2q31.1 Duplication Syndrome CHR365
Chromosome 2q31.2 Deletion Syndrome CHR385
Chromosome 2q35 Duplication Syndrome CHR619 SD1
Chromosome 2q37 Deletion Syndrome CHR543 BDMR
Chromosome 3p Deletion CHR243
Chromosome 3pter-P25 Deletion Syndrome CHR667
Chromosome 3q13.31 Deletion Syndrome CHR483
Chromosome 3q29 Deletion Syndrome CHR594
Chromosome 3q29 Duplication Syndrome CHR582
Chromosome 4p Deletion CHR247
Chromosome 4q21 Deletion Syndrome CHR399
Chromosome 4q32.1-Q32.2 Triplication Syndrome CHR360
Chromosome 5p13 Duplication Syndrome CHR366
Chromosome 5q Deletion Syndrome CHR635 MAR
Chromosome 5q12 Deletion Syndrome CHR567
Chromosome 5q14.3 Deletion Syndrome, Distal CHR664 PVNH5
Chromosome 6pter-P24 Deletion Syndrome CHR386
Chromosome 6q Deletion CHR257
Chromosome 6q11-Q14 Deletion Syndrome CHR400
Chromosome 6q24-Q25 Deletion Syndrome CHR568
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb CHR584
Chromosome 8p Deletion CHR264
Chromosome 8p11 Myeloproliferative Syndrome CHR375 SCLL
Chromosome 8p23.1 Deletion CHR266
Chromosome 8q12.1-Q21.2 Deletion Syndrome CHR645
Chromosome 8q21.11 Deletion Syndrome CHR487
Chromosome 8q22.1 Duplication Syndrome CHR588
Chromosome 9p Deletion Syndrome CHR518
Chromosome 9q Deletion CHR271
Chromosome Xp11.22 Duplication Syndrome CHR639 MRX17
Chromosome Xp11.23-P11.22 Duplication Syndrome CHR368 DUP
Chromosome Xp11.3 Deletion Syndrome CHR397
Chromosome Xp21 Deletion Syndrome CHR387 DEL
Chromosome Xq26.3 Duplication Syndrome CHR525 XLAG
Chromosome Xq27.3-Q28 Duplication Syndrome CHR507 DUP
Chromosome Xq28 Deletion Syndrome CHR275
Chromosome Xq28 Duplication Syndrome CHR369
Chronic Actinic Dermatitis CHR463
Chronic Active Epstein-Barr Virus Infection CHR276 CEBV
Chronic Apical Periodontitis CHR013
Chronic Atrial and Intestinal Dysrhythmia CHR515 CAID
Chronic Beryllium Disease CHR576
Chronic Cervicitis CHR085
Chronic Cholangitis CHR036
Chronic Closed-Angle Glaucoma CHR054
Chronic Conjunctivitis CHR086
Chronic Cystitis CHR087
Chronic Dacryoadenitis CHR035
Chronic Dacryocystitis CHR060
Chronic Endophthalmitis CHR059
Chronic Enteropathy Associated with Slco2a1 Gene CHR603 CEAS
Chronic Eosinophilic Leukemia CHR563
Chronic Eosinophilic Pneumonia CHR037
Chronic Erosive Gastritis CHR280
Chronic Ethmoiditis CHR047
Chronic Fatigue Syndrome CHR066 CFS
Chronic Follicular Conjunctivitis CHR053
Chronic Frontal Sinusitis CHR040
Chronic Gonococcal Salpingitis CHR017
Chronic Graft Versus Host Disease CHR417
Chronic Granulomatous Disease CHR012 CGD
Chronic Hepatic Porphyria CHR471
Chronic Inflammation of Lacrimal Passage CHR088
Chronic Inflammatory Demyelinating Polyneuritis CHR043
Chronic Inflammatory Demyelinating Polyneuropathy CHR283 CIDP
Chronic Inflammatory Demyelinating Polyradiculoneuropathy CHR070
Chronic Interstitial Cystitis CHR020
Chronic Intestinal Failure CHR464 CIF
Chronic Intestinal Pseudoobstruction CHR557 CIPO
Chronic Intestinal Vascular Insufficiency CHR067
Chronic Kidney Disease CHR684 CKD
Chronic Laryngitis CHR057
Chronic Leukemia CHR418 CLL
Chronic Lymphoproliferative Disorder of Natural Killer Cells CHR680 CNKL
Chronic Maxillary Sinusitis CHR038
Chronic Meningitis CHR091
Chronic Monocytic Leukemia CHR064
Chronic Mountain Sickness CHR546
Chronic Mucocutaneous Candidiasis CHR063 CMC
Chronic Myelomonocytic Leukemia CHR285 CMML
Chronic Neutrophilic Leukemia CHR286 CNL
Chronic Nk-Cell Lymphocytosis CHR068
Chronic Orbital Inflammation CHR093
Chronic Pain CHR345
Chronic Polyneuropathy CHR094
Chronic Progressive External Ophthalmoplegia CHR095 PEO
Chronic Pulmonary Heart Disease CHR096
Chronic Purulent Otitis Media CHR097
Chronic Pyelonephritis CHR098
Chronic Recurrent Multifocal Osteomyelitis CHR288 CRMO
Chronic Rhinitis CHR048
Chronic Salpingitis CHR099
Chronic Salpingo-Oophoritis CHR018
Chronic Sphenoidal Sinusitis CHR039
Chronic Thromboembolic Pulmonary Hypertension CHR466 CTEPH
Chronic Tic Disorder CHR056
Chronic Ulcer of Skin CHR100
Chronic Venous Insufficiency CHR431
Chronic Wasting Disease CHR028
Chudley-Mccullough Syndrome CHD004 CMCS
Churg-Strauss Syndrome CHR001
Chylomicron Retention Disease CHY002 CMRD
Chylothorax, Congenital CHY005
Cicatricial Ectropion CCT001
Cicatricial Entropion CCT003
Cicatricial Pemphigoid CCT002
Ciliary Body Cancer CLR122
Ciliary Dyskinesia, Primary, 1 CLR131 CILD1
Ciliary Dyskinesia, Primary, 10 CLR056 CILD10
Ciliary Dyskinesia, Primary, 11 CLR053 CILD11
Ciliary Dyskinesia, Primary, 12 CLR054 CILD12
Ciliary Dyskinesia, Primary, 13 CLR059 CILD13
Ciliary Dyskinesia, Primary, 14 CLR091 CILD14
Ciliary Dyskinesia, Primary, 15 CLR104 CILD15
Ciliary Dyskinesia, Primary, 16 CLR099 CILD16
Ciliary Dyskinesia, Primary, 17 CLR102 CILD17
Ciliary Dyskinesia, Primary, 18 CLR092 CILD18
Ciliary Dyskinesia, Primary, 19 CLR095 CILD19
Ciliary Dyskinesia, Primary, 2 CLR066 CILD2
Ciliary Dyskinesia, Primary, 20 CLR105 CILD20
Ciliary Dyskinesia, Primary, 21 CLR088 CILD21
Ciliary Dyskinesia, Primary, 22 CLR090 CILD22
Ciliary Dyskinesia, Primary, 23 CLR097 CILD23
Ciliary Dyskinesia, Primary, 24 CLR107 CILD24
Ciliary Dyskinesia, Primary, 25 CLR101 CILD25
Ciliary Dyskinesia, Primary, 26 CLR106 CILD26
Ciliary Dyskinesia, Primary, 27 CLR098 CILD27
Ciliary Dyskinesia, Primary, 28 CLR094 CILD28
Ciliary Dyskinesia, Primary, 29 CLR116 CILD29
Ciliary Dyskinesia, Primary, 3 CLR134 CILD3
Ciliary Dyskinesia, Primary, 30 CLR114 CILD30
Ciliary Dyskinesia, Primary, 32 CLR117 CILD32
Ciliary Dyskinesia, Primary, 33 CLR125 CILD33
Ciliary Dyskinesia, Primary, 34 CLR124 CILD34
Ciliary Dyskinesia, Primary, 35 CLR126 CILD35
Ciliary Dyskinesia, Primary, 36, X-Linked CLR127 CILD36
Ciliary Dyskinesia, Primary, 37 CLR123 CILD37
Ciliary Dyskinesia, Primary, 38 CLR138 CILD38
Ciliary Dyskinesia, Primary, 39 CLR139 CILD39
Ciliary Dyskinesia, Primary, 4 CLR067 CILD4
Ciliary Dyskinesia, Primary, 40 CLR140 CILD40
Ciliary Dyskinesia, Primary, 41 CLR141 CILD41
Ciliary Dyskinesia, Primary, 5 CLR068 CILD5
Ciliary Dyskinesia, Primary, 6 CLR042 CILD6
Ciliary Dyskinesia, Primary, 7 CLR135 CILD7
Ciliary Dyskinesia, Primary, 8 CLR069 CILD8
Ciliary Dyskinesia, Primary, 9 CLR136 CILD9
Ciliopathy CLP005
Cinca Syndrome CNC002 CINCA
Cinnamon Odor, Pleasantness of CNN008 CINN
Cirrhosis, Familial CRR016
Cirrhotic Cardiomyopathy CRR012
Citrullinemia, Classic CTR172 CTLN1
Citrullinemia, Type Ii, Adult-Onset CTR177 CTLN2
Citrullinemia, Type Ii, Neonatal-Onset CTR077 NICCD
Ck Syndrome CKS001 CKS
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency CLS040
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form CLS028
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form CLS027
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency CLS025
Classic Ehlers-Danlos Syndrome CLS054 CEDS
Classic Galactosemia and Clinical Variant Galactosemia CLS031
Classic Hairy Cell Leukemia CLS052 HCL-C
Classic Mast Cell Leukemia CLS019
Classic Phenylketonuria CLS049
Classic Progressive Supranuclear Palsy Syndrome CLS047
Classic Pulmonary Blastoma CLS002
Clcn2-Related Leukoencephalopathy CLC058 LKPAT
Clcn4-Related X-Linked Intellectual Disability Syndrome CLC060
Clcn7-Related Osteopetrosis CLC009
Clear Cell Acanthoma CLR001
Clear Cell Adenocarcinoma CLR003
Clear Cell Adenocarcinoma of the Ovary CLR137
Clear Cell Adenofibroma CLR012
Clear Cell Adenoma CLR014
Clear Cell Basal Cell Carcinoma CLR015
Clear Cell Chondrosarcoma CLR005
Clear Cell Cystadenofibroma CLR006
Clear Cell Ependymoma CLR011
Clear Cell Hidradenoma CLR013
Clear Cell Meningioma CLR018
Clear Cell Papillary Renal Cell Carcinoma CLR112
Clear Cell Renal Cell Carcinoma CLR030 CCRCC
Clear Cell Sarcoma CLR017
Cleft Hard Palate CLF034
Cleft Lip CLF001
Cleft Lip and Alveolus CLF049
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome CLF055
Cleft Lip with or Without Cleft Palate CLF056
Cleft Lip/palate CLF004 FLP
Cleft Lip/palate-Ectodermal Dysplasia Syndrome CLF037 CLPED1
Cleft Palate with or Without Ankyloglossia, X-Linked CLF053 CPX
Cleft Palate X-Linked CLF021 CPX
Cleft Palate, Cardiac Defects, and Mental Retardation CLF050 CPCMR
Cleft Palate, Isolated CLF027 CPI
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features CLF048 CPRF
Cleft Soft Palate CLF028
Cleidocranial Dysplasia CLD001 CCD
Cleidocranial Dysplasia Spectrum Disorder CLD019
Climatic Droplet Keratopathy CLM004
Clivus Chordoma CLV002
Clivus Meningioma CLV003
Cll/sll CLL014
Cloacal Exstrophy CLC011
Cloacogenic Carcinoma CLC003
Clonorchiasis CLN003
Clopidogrel Resistance CLP006
Clostridium Difficile Colitis CLS016
Clouston Syndrome CLS005 ECTD2
Clpb Deficiency CLP007 MGA7
Clubfoot CLB002
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly CLB019 CCF
Cluster Headache CLS010
Coach Syndrome CCH002 COACHS
Coarctation of Aorta CRC039
Coats Disease CTS003
Cobblestone Lissencephaly CBB005
Cocaine Abuse CCN002
Cocaine Dependence CCN001
Cocaine Intoxication CCN009
Coccidioidomycosis CCC001
Coccidiosis CCC002
Cochlear Disease CCH001
Cockayne Syndrome CCK001 CS
Cockayne Syndrome a CCK008 CSA
Cockayne Syndrome B CCK007 CSB
Cockayne Syndrome Type I CCK002
Cockayne Syndrome Type Ii CCK003
Cockayne Syndrome Type Iii CCK004
Cocoon Syndrome CCN007 COCOS
Codas Syndrome CDS002 CODASS
Codeine Toxicity CDN003
Coenurosis CNR001
Coenzyme Q10 Deficiency Disease CNZ001
Coenzyme Q10 Deficiency, Primary, 1 CNZ006 COQ10D1
Coenzyme Q10 Deficiency, Primary, 2 CNZ007 COQ10D2
Coenzyme Q10 Deficiency, Primary, 3 CNZ004 COQ10D3
Coenzyme Q10 Deficiency, Primary, 4 CNZ005 COQ10D4
Coenzyme Q10 Deficiency, Primary, 5 CNZ009 COQ10D5
Coenzyme Q10 Deficiency, Primary, 6 CNZ008 COQ10D6
Coenzyme Q10 Deficiency, Primary, 7 CNZ010 COQ10D7
Coenzyme Q10 Deficiency, Primary, 8 CNZ011 COQ10D8
Coffin-Lowry Syndrome CFF002 CLS
Coffin-Siris Syndrome 1 CFF008 CSS1
Coffin-Siris Syndrome 10 CFF015 CSS10
Coffin-Siris Syndrome 2 CFF007 CSS2
Coffin-Siris Syndrome 3 CFF010 CSS3
Coffin-Siris Syndrome 4 CFF009 CSS4
Coffin-Siris Syndrome 5 CFF006 CSS5
Coffin-Siris Syndrome 6 CFF011 CSS6
Coffin-Siris Syndrome 7 CFF012 CSS7
Coffin-Siris Syndrome 8 CFF013 CSS8
Coffin-Siris Syndrome 9 CFF014 CSS9
Cogan Syndrome CGN006
Cogan-Reese Syndrome CGN001
Cognitive Function 1, Social CGN007 CGF1
Cognitive Impairment with or Without Cerebellar Ataxia CGN005 CIAT
Cohen Syndrome CHN016 COH1
Cohen-Gibson Syndrome CHN070 COGIS
Col1a1/2-Related Osteogenesis Imperfecta CL1004 OI
Col4a1-Related Disorders CL4001
Col4a1-Related Familial Vascular Leukoencephalopathy CL4009 BSVD
Colchicine Poisoning CLC053
Colchicine Resistance CLC008 CLCS
Cold Agglutinin Disease CLD007 CAD
Cold Urticaria CLD011
Cold-Induced Sweating Syndrome CLD003 CISS
Cold-Induced Sweating Syndrome Including Crisponi Syndrome CLD004
Cole Disease CLD014 COLED
Cole-Carpenter Syndrome CLC057
Cole-Carpenter Syndrome 1 CLC056 CLCRP1
Cole-Carpenter Syndrome 2 CLC055 CLCRP2
Colitis CLT003
Collagen Disease CLL015
Collagen Type Vi-Related Disorders CLL018
Collagen Vi Related Muscular Dystrophy CLL037
Collagen Vi-Related Myopathy CLL038
Collagenous Colitis CLL021
Collecting Duct Carcinoma CLL002 BDC
Colloid Adenoma CLL011
Colloid Carcinoma of the Pancreas CLL009
Coloboma of Eye Lens CLB008
Coloboma of Eyelid CLB018
Coloboma of Iris CLB009
Coloboma of Macula CLB010
Coloboma of Optic Nerve CLB003 COLON
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome CLB017 CHIME
Coloboma, Ocular, Autosomal Dominant CLB034 COAD
Coloboma, Ocular, Autosomal Recessive CLB022 COAR
Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation CLB021 COB1
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness CLB033 COMMAD
Colobomatous Microphthalmia CLB026 MAC
Colon Adenocarcinoma CLN015
Colon Adenoma CLN044
Colon Carcinoma in Situ CLN004
Colon Leiomyosarcoma CLN012
Colon Lymphoma CLN005
Colon Mucinous Adenocarcinoma CLN002
Colon Neuroendocrine Neoplasm CLN014
Colon Sarcoma CLN018
Colon Squamous Cell Carcinoma CLN009
Colonic Benign Neoplasm CLN045
Colonic Disease CLN019
Colonic Lymphangioma CLN010
Colonic Pseudo-Obstruction CLN006
Color Blindness CLR019
Color Vision Deficiency CLR033
Colorado Tick Fever CLR007
Colorblindness, Partial, Deutan Series CLR132 CBD
Colorblindness, Partial, Protan Series CLR133 CBP
Colorectal Adenocarcinoma CLR109
Colorectal Adenoma CLR108
Colorectal Cancer CLR023 CRC
Colorectal Cancer 1 CLR085 CRCS1
Colorectal Cancer 10 CLR077 CRCS10
Colorectal Cancer 11 CLR078 CRCS11
Colorectal Cancer 12 CLR087 CRCS12
Colorectal Cancer 2 CLR079 CRCS2
Colorectal Cancer 3 CLR075 CRCS3
Colorectal Cancer 5 CLR080 CRCS5
Colorectal Cancer 6 CLR081 CRCS6
Colorectal Cancer 7 CLR082 CRCS7
Colorectal Cancer 8 CLR083 CRCS8
Colorectal Cancer 9 CLR084 CRCS9
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 CLR041 HNPCC2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 CLR039 HNPCC4
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 CLR037 HNPCC5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 CLR055 HNPCC6
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 CLR100 HNPCC7
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 CLR089 HNPCC8
Colpocephaly CLP002
Combat Disorder CMB002
Combined Cellular and Humoral Immune Defects with Granulomas CMB022 CCHIDG
Combined D-2- and L-2-Hydroxyglutaric Aciduria CMB040 D2L2AD
Combined Hepatocellular Carcinoma and Cholangiocarcinoma CMB089
Combined Immunodeficiency and Megaloblastic Anemia with or Without Hyperhomocysteinemia CMB083 CIMAH
Combined Immunodeficiency with Skin Granulomas CMB056
Combined Immunodeficiency, X-Linked CMB081 CIDX
Combined Malonic and Methylmalonic Aciduria CMB011 CMAMMA
Combined Oxidative Phosphorylation Deficiency CMB008
Combined Oxidative Phosphorylation Deficiency 1 CMB012 COXPD1
Combined Oxidative Phosphorylation Deficiency 10 CMB025 COXPD10
Combined Oxidative Phosphorylation Deficiency 11 CMB046 COXPD11
Combined Oxidative Phosphorylation Deficiency 12 CMB026 COXPD12
Combined Oxidative Phosphorylation Deficiency 13 CMB041 COXPD13
Combined Oxidative Phosphorylation Deficiency 14 CMB044 COXPD14
Combined Oxidative Phosphorylation Deficiency 15 CMB048 COXPD15
Combined Oxidative Phosphorylation Deficiency 16 CMB042 COXPD16
Combined Oxidative Phosphorylation Deficiency 17 CMB049 COXPD17
Combined Oxidative Phosphorylation Deficiency 18 CMB047 COXPD18
Combined Oxidative Phosphorylation Deficiency 19 CMB045 COXPD19
Combined Oxidative Phosphorylation Deficiency 2 CMB013 COXPD2
Combined Oxidative Phosphorylation Deficiency 20 CMB052 COXPD20
Combined Oxidative Phosphorylation Deficiency 21 CMB051 COXPD21
Combined Oxidative Phosphorylation Deficiency 22 CMB053 COXPD22
Combined Oxidative Phosphorylation Deficiency 23 CMB054 COXPD23
Combined Oxidative Phosphorylation Deficiency 24 CMB064 COXPD24
Combined Oxidative Phosphorylation Deficiency 25 CMB063 COXPD25
Combined Oxidative Phosphorylation Deficiency 26 CMB065 COXPD26
Combined Oxidative Phosphorylation Deficiency 27 CMB071 COXPD27
Combined Oxidative Phosphorylation Deficiency 28 CMB072 COXPD28
Combined Oxidative Phosphorylation Deficiency 29 CMB079 COXPD29
Combined Oxidative Phosphorylation Deficiency 3 CMB014 COXPD3
Combined Oxidative Phosphorylation Deficiency 30 CMB077 COXPD30
Combined Oxidative Phosphorylation Deficiency 31 CMB076 COXPD31
Combined Oxidative Phosphorylation Deficiency 32 CMB078 COXPD32
Combined Oxidative Phosphorylation Deficiency 33 CMB082 COXPD33
Combined Oxidative Phosphorylation Deficiency 34 CMB084 COXPD34
Combined Oxidative Phosphorylation Deficiency 35 CMB085 COXPD35
Combined Oxidative Phosphorylation Deficiency 36 CMB086 COXPD36
Combined Oxidative Phosphorylation Deficiency 37 CMB087 COXPD37
Combined Oxidative Phosphorylation Deficiency 38 CMB090 COXPD38
Combined Oxidative Phosphorylation Deficiency 39 CMB091 COXPD39
Combined Oxidative Phosphorylation Deficiency 4 CMB015 COXPD4
Combined Oxidative Phosphorylation Deficiency 5 CMB016 COXPD5
Combined Oxidative Phosphorylation Deficiency 6 CMB017 COXPD6
Combined Oxidative Phosphorylation Deficiency 7 CMB018 COXPD7
Combined Oxidative Phosphorylation Deficiency 8 CMB019 COXPD8
Combined Oxidative Phosphorylation Deficiency 9 CMB043 COXPD9
Combined Pituitary Hormone Deficiencies, Genetic Forms CMB062
Combined Pituitary Hormone Deficiency CMB021 CPHD
Combined Saposin Deficiency CMB020 CSAPD
Combined T and B Cell Immunodeficiency CMB095
Combined T Cell and B Cell Immunodeficiency CMB003
Combined Thymoma CMB001
Comedo Carcinoma CMD001
Commensal Bacterial Infectious Disease CMM006
Common Bile Duct Disease CMM007
Common Cold CMM005
Common Peroneal Nerve Lesion CMM002
Common Variable Immunodeficiency CMM004 CVID
Common Wart CMM003
Communicating Hydrocephalus CMM008
Compartment Syndrome CMP008
Compensatory Emphysema CMP003
Complement Component 2 Deficiency CMP028 C2D
Complement Component 3 Deficiency CMP064
Complement Component 3 Deficiency, Autosomal Recessive CMP090 C3D
Complement Component 4, Partial Deficiency of CMP040
Complement Component 4a Deficiency CMP095 C4AD
Complement Component 4b Deficiency CMP094 C4BD
Complement Component 5 Deficiency CMP007 C5D
Complement Component 6 Deficiency CMP089 C6D
Complement Component 7 Deficiency CMP087 C7D
Complement Component 8 Deficiency CMP066
Complement Component 8 Deficiency, Type I CMP093 C8D1
Complement Component 8 Deficiency, Type Ii CMP092 C8D2
Complement Component 9 Deficiency CMP060 C9D
Complement Component C1s Deficiency CMP091 C1SD
Complement Component Deficiency CMP031
Complement Component Receptor 1 CMP032
Complement Deficiency CMP009
Complement Factor B Deficiency CMP063 CFBD
Complement Factor D Deficiency CMP041 CFDD
Complement Factor H Deficiency CMP042 CFHD
Complement Factor I Deficiency CMP004 CFID
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy CMP080 CHAPLE
Complete Androgen Insensitivity Syndrome CMP034 CAIS
Complete Atrioventricular Canal CMP035 CAVC
Complete Atrioventricular Canal-Left Heart Obstruction Syndrome CMP070
Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome CMP084
Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome CMP069
Complete Generalized Lipodystrophy CMP096
Complete Plasminogen Activator Inhibitor 1 Deficiency CMP083
Complex Chromosomal Rearrangement CMP097
Complex Cortical Dysplasia with Other Brain Malformations CMP082 CDCBM
Complex Hereditary Spastic Paraplegia CMP101
Complex Partial Epilepsy CMP006
Complex Regional Pain Syndrome CMP010 CRPS
Complication After Organ Transplantation CMP062
Complication in Hemodialysis CMP052
Composite Lymphoma CMP001
Conduct Disorder CND002
Cone Dystrophy CND005
Cone Dystrophy 3 CND011 COD3
Cone Dystrophy 4 CND012 COD4
Cone-Rod Dystrophy 1 CNR003 CORD1
Cone-Rod Dystrophy 10 CNR021 CORD10
Cone-Rod Dystrophy 11 CNR012 CORD11
Cone-Rod Dystrophy 12 CNR013 CORD12
Cone-Rod Dystrophy 13 CNR024 CORD13
Cone-Rod Dystrophy 15 CNR025 CORD15
Cone-Rod Dystrophy 16 CNR014 CORD16
Cone-Rod Dystrophy 17 CNR027 CORD17
Cone-Rod Dystrophy 18 CNR026 CORD18
Cone-Rod Dystrophy 19 CNR029 CORD19
Cone-Rod Dystrophy 2 CNR004 CORD2
Cone-Rod Dystrophy 20 CNR030 CORD20
Cone-Rod Dystrophy 21 CNR032 CORD21
Cone-Rod Dystrophy 3 CNR005 CORD3
Cone-Rod Dystrophy 5 CNR006 CORD5
Cone-Rod Dystrophy 6 CNR007 CORD6
Cone-Rod Dystrophy 7 CNR016 CORD7
Cone-Rod Dystrophy 8 CNR023 CORD8
Cone-Rod Dystrophy 9 CNR017 CORD9
Cone-Rod Dystrophy and Hearing Loss 1 CNR040 CRDHL1
Cone-Rod Dystrophy and Hearing Loss 2 CNR041 CRDHL2
Cone-Rod Dystrophy, X-Linked, 1 CNR031 CORDX1
Cone-Rod Dystrophy, X-Linked, 2 CNR039 CORDX2
Cone-Rod Dystrophy, X-Linked, 3 CNR038 CORDX3
Cone-Rod Synaptic Disorder, Congenital Nonprogressive CNR033 CRSD
Congenital Analbuminemia CNG336
Congenital Anomalies of Kidney and Urinary Tract 1 CNG509 CAKUT1
Congenital Anomalies of Kidney and Urinary Tract 2 CNG499 CAKUT2
Congenital Anomalies of Kidney and Urinary Tract 3 CNG540 CAKUT3
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay CNG495 CAKUTHED
Congenital Aphakia CNG005
Congenital Arthrogryposis with Anterior Horn Cell Disease CNG538 CAAHD
Congenital Bile Acid Synthesis Defect CNG002 CBA
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome CNG466
Congenital Cataracts, Facial Dysmorphism, and Neuropathy CNG041 CCFDN
Congenital Cataracts, Hearing Loss, and Neurodegeneration CNG382 CCHLND
Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome CNG533
Congenital Central Diabetes Insipidus CNG342
Congenital Cerebellar Ataxia Due to Rnu12 Mutation CNG534
Congenital Chloride Diarrhea CNG064 CLD
Congenital Communicating Hydrocephalus CNG253
Congenital Contractures CNG065
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay CNG437 CLIFAHDD
Congenital Cornea Plana CNG433
Congenital Cytomegalovirus CNG069
Congenital Diarrhea CNG478
Congenital Diarrhea 7 with Exudative Enteropathy CNG480
Congenital Disorder of Deglycosylation CNG436 CDDG
Congenital Disorder of Glycosylation with Defective Fucosylation 1 CNG539 CDGF1
Congenital Disorder of Glycosylation with Defective Fucosylation 2 CNG541 CDGF2
Congenital Disorder of Glycosylation, Type Ia CNG415 CDG1A
Congenital Disorder of Glycosylation, Type Iaa CNG512 CDG1AA
Congenital Disorder of Glycosylation, Type Ib CNG189 CDG1B
Congenital Disorder of Glycosylation, Type Ic CNG196 CDG1C
Congenital Disorder of Glycosylation, Type Id CNG195 CDG1D
Congenital Disorder of Glycosylation, Type Ie CNG206 CDG1E
Congenital Disorder of Glycosylation, Type if CNG188 CDG1F
Congenital Disorder of Glycosylation, Type Ig CNG194 CDG1G
Congenital Disorder of Glycosylation, Type Ih CNG197 CDG1H
Congenital Disorder of Glycosylation, Type Ii CNG412 CDG1I
Congenital Disorder of Glycosylation, Type Iia CNG191 CDG2A
Congenital Disorder of Glycosylation, Type Iib CNG190 CDG2B
Congenital Disorder of Glycosylation, Type Iic CNG208 CDG2C
Congenital Disorder of Glycosylation, Type Iid CNG187 CDG2D
Congenital Disorder of Glycosylation, Type Iif CNG209 CDG2F
Congenital Disorder of Glycosylation, Type Iig CNG185 CDG2G
Congenital Disorder of Glycosylation, Type Iih CNG204 CDG2H
Congenital Disorder of Glycosylation, Type Iii CNG203 CDG2I
Congenital Disorder of Glycosylation, Type Iij CNG201 CDG2J
Congenital Disorder of Glycosylation, Type Iik CNG383 CDG2K
Congenital Disorder of Glycosylation, Type Iil CNG414 CDG2L
Congenital Disorder of Glycosylation, Type Iim CNG389 CDG2M
Congenital Disorder of Glycosylation, Type Iin CNG498 CDG2N
Congenital Disorder of Glycosylation, Type Iio CNG497 CDG2O
Congenital Disorder of Glycosylation, Type Iip CNG504 CDG2P
Congenital Disorder of Glycosylation, Type Iiq CNG496 CDG2Q
Congenital Disorder of Glycosylation, Type Ij CNG205 CDG1J
Congenital Disorder of Glycosylation, Type Ik CNG192 CDG1K
Congenital Disorder of Glycosylation, Type Il CNG198 CDG1L
Congenital Disorder of Glycosylation, Type Im CNG199 CDG1M
Congenital Disorder of Glycosylation, Type in CNG411 CDG1N
Congenital Disorder of Glycosylation, Type Ip CNG193 CDG1P
Congenital Disorder of Glycosylation, Type Iq CNG200 CDG1Q
Congenital Disorder of Glycosylation, Type Ir CNG378 CDG1R
Congenital Disorder of Glycosylation, Type It CNG379 CDG1T
Congenital Disorder of Glycosylation, Type Iu CNG386 CDG1U
Congenital Disorder of Glycosylation, Type Iw CNG388 CDG1W
Congenital Disorder of Glycosylation, Type Ix CNG403 CDG1X
Congenital Disorder of Glycosylation, Type Iy CNG416 CDG1Y
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway CNG486
Congenital Dyserythropoietic Anemia CNG003 CDA
Congenital Epulis CNG004
Congenital Fiber-Type Disproportion CNG046 CFTD
Congenital Fibrosarcoma CNG023
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome CNG493
Congenital Generalized Lipodystrophy CNG012 GCL
Congenital Granular Cell Tumor CNG022
Congenital Heart Defects and Ectodermal Dysplasia CNG503 CHDED
Congenital Heart Defects and Skeletal Malformations Syndrome CNG502 CHDSKM
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder CNG501 CHDFIDD
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly CNG410 CHDTHP
Congenital Heart Defects, Multiple Types, 2 CNG511 CHTD2
Congenital Heart Defects, Multiple Types, 3 CNG385 CHTD3
Congenital Heart Defects, Multiple Types, 4 CNG404 CHTD4
Congenital Heart Defects, Multiple Types, 5 CNG521 CHTD5
Congenital Heart Defects, Multiple Types, 6 CNG520 CHTD6
Congenital Hemangioma CNG578
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects CNG184 CHILD
Congenital Hemolytic Anemia CNG027
Congenital Hepatic Fibrosis CNG048 CHF
Congenital Hereditary Endothelial Dystrophy Type I CNG400 CHED1
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome CNG490
Congenital Hydrocephalus CNG216
Congenital Hypogammaglobulinemia CNG020
Congenital Hypogonadotropic Hypogonadism CNG562
Congenital Hypoplastic Anemia CNG028
Congenital Hypothyroidism CNG006 CH
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies CNG545 CHEDDA
Congenital Insensitivity to Pain with Severe Intellectual Disability CNG472
Congenital Intrauterine Infection-Like Syndrome CNG418
Congenital Intrinsic Factor Deficiency CNG016 IFD
Congenital Joint Dislocations CNG575
Congenital Knee Dislocation CNG282
Congenital Leptin Deficiency CNG376 LEPD
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi CNG510 CLOVE
Congenital Lymphedema CNG439
Congenital Mesoblastic Nephroma CNG029
Congenital Methemoglobinemia CNG223
Congenital Muscular Dystrophy Due to Dystroglycanopathy CNG441
Congenital Muscular Dystrophy Type 1a CNG112
Congenital Muscular Dystrophy with Cerebellar Involvement CNG426
Congenital Muscular Dystrophy with Intellectual Disability CNG427
Congenital Muscular Dystrophy Without Intellectual Disability CNG428
Congenital Muscular Dystrophy-Dystroglycanopathy A7 CNG551
Congenital Muscular Dystrophy-Dystroglycanopathy Type a CNG546 MDDGA
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 CNG557
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 CNG553
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 CNG558
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 CNG559
Congenital Myasthenic Syndrome CNG001 CMS
Congenital Myasthenic Syndrome with Episodic Apnea CNG114 FIM
Congenital Myasthenic Syndromes with Glycosylation Defect CNG429
Congenital Myopathy with Cores CNG563
Congenital Myopathy with Myasthenic-Like Onset CNG459
Congenital Myopathy, Paradas Type CNG234
Congenital Nemaline Myopathy CNG579
Congenital Nephrotic Syndrome Finnish Type CNG116 CNF
Congenital Nervous System Abnormality CNG031
Congenital Nonspherocytic Hemolytic Anemia CNG017 HNSHA
Congenital Nystagmus CNG024
Congenital Plasminogen Deficiency CNG171
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome CNG530
Congenital Ptosis CNG513
Congenital Pulmonary Alveolar Proteinosis CNG121
Congenital Rubella CNG124 CRS
Congenital Short Bowel Syndrome CNG413 CSBS
Congenital Sialidosis Type 2 CNG348
Congenital Stationary Night Blindness CNG010
Congenital Structural Myopathy CNG032
Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance CNG301
Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance CNG304
Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance CNG299
Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance CNG300
Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance CNG305
Congenital Syphilis CNG033
Congenital Toxoplasmosis CNG021
Congenital Valvular Dysplasia CNG423
Congenital Vertebral-Cardiac-Renal Anomalies Syndrome CNG532
Congenital Vertical Talus, Bilateral CNG316
Congenital Vertical Talus, Unilateral CNG315
Congenitally Corrected Transposition of the Great Arteries CNG134
Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation CNG259
Congenitally Uncorrected Transposition of the Great Arteries with Coarctation CNG359
Congestive Heart Failure CNG034 CHF
Conidiobolomycosis CND001
Conjugate Gaze Palsy CNJ001
Conjunctival Cancer CNJ009
Conjunctival Degeneration CNJ010
Conjunctival Deposit CNJ011
Conjunctival Disease CNJ012
Conjunctival Folliculosis CNJ002
Conjunctival Intraepithelial Neoplasm CNJ006
Conjunctival Nevus CNJ017
Conjunctival Pigmentation CNJ004
Conjunctival Squamous Cell Carcinoma CNJ018
Conjunctivitis CNJ013
Conjunctivochalasis CNJ007
Connective Tissue Benign Neoplasm CNN010
Connective Tissue Cancer CNN004
Connective Tissue Disease CNN005
Conn's Syndrome CNN003
Conotruncal Heart Malformations CNT061 CTHM
Constipation CNS004
Constrictive Pericarditis CNS002
Contact Dermatitis CNT047
Contagious Pustular Dermatitis CNT001 ORF
Contractural Arachnodactyly, Congenital CNT099 CCA
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a CNT110 CPSKF1A
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1b CNT111 CPSKF1B
Conventional Angiosarcoma CNV001
Conventional Central Osteosarcoma CNV007
Conventional Fibrosarcoma CNV003
Conventional Leiomyosarcoma CNV006
Conversion Disorder CNV002 FND
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis CNV018 ICCA
Copper Deficiency Myelopathy CPP004
Coproporphyria, Hereditary CPR004 HCP
Cor Triatriatum CRT028
Cor Triatriatum Dexter CRT061
Cor Triatriatum Sinister CRT060
Core Binding Factor Acute Myeloid Leukemia CRB138
Cork-Handlers' Disease CRK001
Cornea Cancer CRN021
Cornea Plana CRN249
Cornea Plana 1, Autosomal Dominant CRN279 CNA1
Cornea Plana 2, Autosomal Recessive CRN280 CNA2
Corneal Abscess CRN004
Corneal Degeneration CRN022
Corneal Deposit CRN023
Corneal Disease CRN024
Corneal Dystrophy CRN025
Corneal Dystrophy and Perceptive Deafness CRN045 CDPD
Corneal Dystrophy, Avellino Type CRN237 CDA
Corneal Dystrophy, Band-Shaped CRN288
Corneal Dystrophy, Congenital Stromal CRN241 CSCD
Corneal Dystrophy, Endothelial, X-Linked CRN128 XECD
Corneal Dystrophy, Epithelial Basement Membrane CRN238 EBMD
Corneal Dystrophy, Fleck CRN285 CFD
Corneal Dystrophy, Fuchs Endothelial, 1 CRN233 FECD1
Corneal Dystrophy, Fuchs Endothelial, 2 CRN242 FECD2
Corneal Dystrophy, Fuchs Endothelial, 3 CRN120 FECD3
Corneal Dystrophy, Fuchs Endothelial, 4 CRN143 FECD4
Corneal Dystrophy, Fuchs Endothelial, 5 CRN121 FECD5
Corneal Dystrophy, Fuchs Endothelial, 6 CRN147 FECD6
Corneal Dystrophy, Fuchs Endothelial, 7 CRN122 FECD7
Corneal Dystrophy, Fuchs Endothelial, 8 CRN218 FECD8
Corneal Dystrophy, Gelatinous Drop-Like CRN106 GDLD
Corneal Dystrophy, Groenouw Type I CRN235 CDGG1
Corneal Dystrophy, Lattice Type I CRN236 LCD1
Corneal Dystrophy, Lattice Type Iiia CRN160 CDL3A
Corneal Dystrophy, Lisch Epithelial CRN126 LECD
Corneal Dystrophy, Meesmann CRN286 MECD
Corneal Dystrophy, Posterior Amorphous CRN274 PACD
Corneal Dystrophy, Posterior Polymorphous, 1 CRN231 PPCD1
Corneal Dystrophy, Posterior Polymorphous, 2 CRN303 PPCD2
Corneal Dystrophy, Posterior Polymorphous, 3 CRN146 PPCD3
Corneal Dystrophy, Posterior Polymorphous, 4 CRN306 PPCD4
Corneal Dystrophy, Reis-Bucklers Type CRN141 CDRB
Corneal Dystrophy, Subepithelial Mucinous CRN273 SMCD
Corneal Dystrophy, Thiel-Behnke Type CRN247 CDTB
Corneal Ectasia CRN009
Corneal Edema CRN026
Corneal Endothelial Dystrophy CRN276 CHED
Corneal Endothelial Dystrophy Type 2 CRN068 CHED2
Corneal Neovascularization CRN027
Corneal Staphyloma CRN007
Corneal Ulcer CRN028
Cornelia De Lange Syndrome CRN015 BDLS
Cornelia De Lange Syndrome 1 CRN139 CDLS1
Cornelia De Lange Syndrome 2 CRN134 CDLS2
Cornelia De Lange Syndrome 3 CRN135 CDLS3
Cornelia De Lange Syndrome 4 CRN215 CDLS4
Cornelia De Lange Syndrome 5 CRN209 CDLS5
Coronary Aneurysm CRN006
Coronary Artery Aneurysm CRN074
Coronary Artery Anomaly CRN018 CHD
Coronary Artery Disease, Autosomal Dominant 2 CRN304 ADCAD2
Coronary Artery Disease, Autosomal Dominant, 1 CRN133 ADCAD1
Coronary Artery Vasospasm CRN019
Coronary Heart Disease 1 CRN300 CHD
Coronary Heart Disease 2 CRN174 CHDS2
Coronary Heart Disease 3 CRN172 CHDS3
Coronary Heart Disease 4 CRN175 CHDS4
Coronary Heart Disease 5 CRN214 CHDS5
Coronary Heart Disease 6 CRN178 CHDS6
Coronary Heart Disease 7 CRN177 CHDS7
Coronary Heart Disease 8 CRN173 CHDS8
Coronary Heart Disease 9 CRN176 CHDS9
Coronary Restenosis CRN020
Coronary Stenosis CRN030
Coronary Thrombosis CRN017
Coronin-1a Deficiency CRN011
Corpus Callosum Lipoma CRP003
Corpus Callosum, Agenesis of CRP032 ACC
Corpus Callosum, Agenesis of, with Abnormal Genitalia CRP033 ACCAG
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia CRP030 CCAFCA
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence CRP028
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia CRP034 MRXS28
Corpus Callosum, Partial Agenesis of, X-Linked CRP035 ACCPX
Corpus Luteum Cyst CRP004
Cortical Blindness CRT012
Cortical Deafness CRT007
Cortical Dysplasia, Complex, with Other Brain Malformations 1 CRT070 CDCBM1
Cortical Dysplasia, Complex, with Other Brain Malformations 2 CRT067 CDCBM2
Cortical Dysplasia, Complex, with Other Brain Malformations 3 CRT068 CDCBM3
Cortical Dysplasia, Complex, with Other Brain Malformations 4 CRT071 CDCBM4
Cortical Dysplasia, Complex, with Other Brain Malformations 5 CRT073 CDCBM5
Cortical Dysplasia, Complex, with Other Brain Malformations 6 CRT074 CDCBM6
Cortical Dysplasia, Complex, with Other Brain Malformations 7 CRT081 CDCBM7
Cortical Dysplasia, Complex, with Other Brain Malformations 8 CRT082 CDCBM8
Cortical Dysplasia, Complex, with Other Brain Malformations 9 CRT087 CDCBM9
Cortical Malformations, Occipital CRT069 OCCM
Cortical Senile Cataract CRT003
Cortical Thymoma CRT005
Corticobasal Degeneration CRT033 CBGD
Corticosteroid Allergy CRT086
Corticosteroid-Binding Globulin Deficiency CRT046 CBG DEFICIENCY
Corticosterone Methyloxidase Deficiency CRT064
Corticosterone Methyloxidase Type I Deficiency CRT039 CMO-1 DEFICIENCY
Corticosterone Methyloxidase Type Ii Deficiency CRT040 CMO-2 DEFICIENCY
Cortisone Reductase Deficiency CRT020
Cortisone Reductase Deficiency 1 CRT065 CORTRD1
Cortisone Reductase Deficiency 2 CRT066 CORTRD2
Costello Syndrome CST001 CSTLO
Cough Variant Asthma CGH001
Coumarin Resistance CMR002 CMRES
Cousin Syndrome CSN001 COUSS
Cow Milk Allergy CWM001
Cowchock Syndrome CWC001 COWCK
Cowden Syndrome CWD010 CD
Cowden Syndrome 1 CWD006 CWS1
Cowden Syndrome 4 CWD005 CWS4
Cowden Syndrome 5 CWD004 CWS5
Cowden Syndrome 6 CWD008 CWS6
Cowden Syndrome 7 CWD009 CWS7
Cowpox CWP001 YABA
Coxa Vara CXV002
Cramp-Fasciculation Syndrome CRM010
Crane-Heise Syndrome CRN076
Cranial Nerve Disease CRN031
Cranial Nerve Malignant Neoplasm CRN033
Cranial Nerve Neoplasm CRN034
Cranial Nerve Palsy CRN035
Craniodiaphyseal Dysplasia CRN013 CDD
Craniodiaphyseal Dysplasia, Autosomal Dominant CRN220 CDD
Cranioectodermal Dysplasia 1 CRN108 CED1
Cranioectodermal Dysplasia 2 CRN109 CED2
Cranioectodermal Dysplasia 3 CRN110 CED3
Cranioectodermal Dysplasia 4 CRN111 CED4
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome CRN210 CAASDS
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome CRN212 CFSMR
Craniofacial-Deafness-Hand Syndrome CRN048 CDHS
Craniofacioskeletal Syndrome CRN156
Craniofrontonasal Syndrome CRN005 CFNS
Craniolenticulosutural Dysplasia CRN049 CLSD
Craniometaphyseal Dysplasia, Autosomal Dominant CRN052 CMDD
Craniometaphyseal Dysplasia, Autosomal Recessive CRN240 CMDR
Craniopharyngioma CRN036
Craniorachischisis CRN088
Craniosynostosis CRN037 CSO
Craniosynostosis 1 CRN278 CRS1
Craniosynostosis 2 CRN277 CRS2
Craniosynostosis 3 CRN217 CRS3
Craniosynostosis 4 CRN221 CRS4
Craniosynostosis 5 CRN216 CRS5
Craniosynostosis 6 CRN256 CRS6
Craniosynostosis 7 CRN281 CRS7
Craniosynostosis and Dental Anomalies CRN200 CRSDA
Craniosynostosis Philadelphia Type CRN101
Craniosynostosis with Ectopia Lentis CRN297
Craniosynostosis, Adelaide Type CRN234 CRSA
C-Reactive Protein, Serum Level of, Quantitative Trait Locus 1 CRC043 CRPQTL1
Creatine Deficiency Syndromes CRT055 CDS
Creatine Kinase, Brain Type, Ectopic Expression of CRT047 CKBE
Creatine Phosphokinase, Elevated Serum CRT045 HYPCK
Creatinine Clearance Quantitative Trait Locus CRT084 CRCL
Crescentic Glomerulonephritis CRS001
Crest Syndrome CRS005
Creutzfeldt-Jakob Disease CRT072 CJD
Cribriform Carcinoma CRB006
Cri-Du-Chat Syndrome CRD002
Crigler-Najjar Syndrome, Type I CRG003 CN1
Crigler-Najjar Syndrome, Type Ii CRG004 CN2
Crimean-Congo Hemorrhagic Fever CRM001 CCHF
Crisponi/cold-Induced Sweating Syndrome 1 CRS016 CISS1
Crisponi/cold-Induced Sweating Syndrome 2 CRS017 CISS2
Crisponi/cold-Induced Sweating Syndrome 3 CRS018 CISS3
Criss-Cross Heart CRS011
Critical Illness Polyneuropathy CRT009
Crohn's Colitis CRH005
Crohn's Disease CRH001
Croup CRP002 CROUP
Crouzon Syndrome CRZ001 CS
Crouzon Syndrome with Acanthosis Nigricans CRZ002 CAN
Crustacean Allergy CRS013
Cryofibrinogenemia CRY006
Cryoglobulinemia CRY004
Cryoglobulinemia, Familial Mixed CRY007 MC
Cryohydrocytosis CRY019 CHC
Cryopyrin-Associated Periodic Syndrome CRY008 CAPS
Cryptococcal Meningitis CRY014
Cryptococcosis CRY005
Cryptogenic Cirrhosis CRY036
Cryptogenic Multifocal Ulcerous Stenosing Enteritis CRY031 CMUSE
Cryptogenic Organizing Pneumonia CRY001 COP
Cryptophthalmia CRY037
Cryptophthalmos CRY010
Cryptophthalmos, Unilateral or Bilateral, Isolated CRY030 CRYPTOP
Cryptorchidism, Unilateral or Bilateral CRY035 CRYPTO
Cryptosporidiosis CRY003
Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia CSF005
Cubitus Valgus with Mental Retardation and Unusual Facies CBT001
Culler-Jones Syndrome CLL036 CJS
Curariform Drugs Toxicity CRR014
Curly Hair-Acral Keratoderma-Caries Syndrome CRL002 CHACS
Currarino Syndrome CRR002 CURRAS
Curry-Jones Syndrome CRR017 CRJS
Cushing Syndrome Due to Macronodular Adrenal Hyperplasia CSH006
Cutaneous Adenocystic Carcinoma CTN009
Cutaneous Anthrax CTN013
Cutaneous Candidiasis CTN033
Cutaneous Diphtheria CTN005
Cutaneous Fibrous Histiocytoma CTN004
Cutaneous Ganglioneuroma CTN010
Cutaneous Leiomyosarcoma CTN012
Cutaneous Leishmaniasis CTN007
Cutaneous Lupus Erythematosus CTN003
Cutaneous Mastocytoma CTN027
Cutaneous Mucoepidermoid Carcinoma CTN002
Cutaneous Polyarteritis Nodosa CTN019
Cutaneous Porphyria CTN011
Cutaneous Solitary Mastocytoma CTN001
Cutaneous T Cell Lymphoma CTN015 CTCL
Cutaneous Telangiectasia and Cancer Syndrome, Familial CTN028 FCTCS
Cutis Laxa CTS001
Cutis Laxa, Autosomal Dominant 1 CTS045 ADCL1
Cutis Laxa, Autosomal Dominant 2 CTS031 ADCL2
Cutis Laxa, Autosomal Dominant 3 CTS041 ADCL3
Cutis Laxa, Autosomal Recessive, Type Ia CTS030 ARCL1A
Cutis Laxa, Autosomal Recessive, Type Ib CTS037 ARCL1B
Cutis Laxa, Autosomal Recessive, Type Ic CTS033 ARCL1C
Cutis Laxa, Autosomal Recessive, Type Iia CTS038 ARCL2A
Cutis Laxa, Autosomal Recessive, Type Iib CTS023 ARCL2B
Cutis Laxa, Autosomal Recessive, Type Iic CTS044 ARCL2C
Cutis Laxa, Autosomal Recessive, Type Iid CTS043 ARCL2D
Cutis Laxa, Autosomal Recessive, Type Iiia CTS029 ARCL3A
Cutis Laxa, Autosomal Recessive, Type Iiib CTS032 ARCL3B
Cutis Marmorata Telangiectatica Congenita CTS011 CMTC
Cyanide Poisoning CYN003
Cyanosis, Transient Neonatal CYN002 TNCY
Cyclic Neutropenia CYC010 CH
Cyclic Vomiting Syndrome CYC008 CVS
Cycloplegia CYC001
Cyclosporiasis CYC002
Cyclothymic Disorder CYC005
Cyclotropia CYC003
Cylindromatosis, Familial CYL004 FCYL
Cystadenocarcinoma CYS014
Cystadenofibroma CYS015
Cystadenoma CYS009
Cystathioninuria CYS019 CSTNU
Cystic Basal Cell Carcinoma CYS004
Cystic Echinococcosis CYS008
Cystic Fibrosis CYS001 CF
Cystic Fibrosis and Congenital Absence of the Vas Deferens CYS042
Cystic Fibrosis, Modifier of, 1 CYS047 CFM1
Cystic Kidney Disease CYS039
Cystic Lymphangioma CYS002
Cystic Nephroma CYS007
Cystic Teratoma CYS017
Cysticercosis CYS005
Cystinosis CYS010
Cystinosis, Adult Nonnephropathic CYS045 CTNSANN
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type CYS046 CTNSJAN
Cystinosis, Nephropathic CYS036 CTNS
Cystinuria CYS013 CSNU
Cystitis CYS018
Cystitis Cystica CYS003
Cystoisosporiasis CYS011
Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 CYT022 COX7A2P2
Cytochrome P450 Oxidoreductase Deficiency CYT014 PORD
Cytogenetically Normal Acute Myeloid Leukemia CYT019
Cytokine Deficiency CYT002
Cytomegalic Congenital Adrenal Hypoplasia CYT020
Cytomegalovirus Infection CYT008
Cytomegalovirus Retinitis CYT005
Cytophagic Histiocytic Panniculitis CYT017 CHP
Cytoplasmic Body Myopathy CYT006
Czech Dysplasia CZC002 CZECHD
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